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130 phene records found

[show instead gene records]

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OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First ReportedDate Last Modified
OMIA 002147-9823Leigh syndromeSus scrofapig 2018-04-09
OMIA 001856-9823Tuberculosis, susceptibility/resistance toSus scrofapig 2013-06-15
OMIA 001199-9823Coat colour, extensionSus scrofapig MC1R 1998 2017-09-02
OMIA 000354-9823Exostosis, multipleSus scrofapig 2013-07-17
OMIA 000729-9823Nipples, invertedSus scrofapig 2009-12-01
OMIA 002157-9823Ectodermal dysplasia-9Sus scrofapig HOXC13 2017 2018-08-27
OMIA 000392-9823Fragile siteSus scrofapig 2005-09-06
OMIA 001469-9823Coat colour, white beltSus scrofapig 2018-09-15
OMIA 000424-9823Goitre, familialSus scrofapig 2005-09-06
OMIA 002161-9823Leg weakness, MSTN-relatedSus scrofapig MSTN 2019 2019-02-01
OMIA 000928-9823Spastic paresisSus scrofapig 2013-08-31
OMIA 001183-9823Bullous pemphigoid antigenSus scrofapig 2005-09-06
OMIA 000437-9823Haemophilia ASus scrofapig 2012-12-06
OMIA 001249-9823Coat colour, brown, TYRP1-relatedSus scrofapig TYRP1 2011 2020-06-26
OMIA 002178-9823Abortion, BBS9-relatedSus scrofapig BBS9 2018 2019-03-21
OMIA 001888-9823Muscular dystrophy, Becker typeSus scrofapig 2013-11-06
OMIA 001214-9823OsteochondromatosisSus scrofapig 2005-09-06
OMIA 002183-9823Abortion due to haplotype LA3Sus scrofapig PNKP 2019 2019-03-26
OMIA 001216-9823Coat colour, roanSus scrofapig KIT 2011 2011-12-09
OMIA 001342-9823Mucopolysaccharidosis IIIBSus scrofapig 2019-03-30
OMIA 000485-9823Huntington diseaseSus scrofapig 2019-09-30
OMIA 001150-9823Neuropathy, peripheralSus scrofapig 2005-09-06
OMIA 000841-9823Pulmonary hypertensionSus scrofapig 2019-04-15
OMIA 000022-9823AgnathiaSus scrofapig 2011-10-04
OMIA 001089-9823Blood group system ABOSus scrofapig GGTA1 2001 2020-05-15
OMIA 002063-9823Hyperlipidaemia/atherosclerosis due to ApoE knockoutSus scrofapig 2019-05-30
OMIA 000944-9823Spongiform encephalopathySus scrofapig 2020-05-15
OMIA 001142-9823Wilms tumourSus scrofapig 2005-09-06
OMIA 000633-9823Melanoma, Sinclair swine cutaneous malignantSus scrofapig 2009-12-01
OMIA 001916-9823Familial adenomatous polyposisSus scrofapig 2017-08-08
OMIA 000540-9823Hypotrichosis, genericSus scrofapig 2005-09-06
OMIA 000952-9823Subaortic stenosisSus scrofapig 2005-09-06
OMIA 001574-9823Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positiveSus scrofapig 2016-09-29
OMIA 002210-9823Hypothyroidism, congenital, DUOX2-relatedSus scrofapig DUOX2 2019 2019-09-21
OMIA 001033-9823UrolithiasisSus scrofapig 2013-08-05
OMIA 000189-9823ChondrodystrophySus scrofapig 2012-11-24
OMIA 001929-9823Cone-rod dystrophy 6Sus scrofapig 2016-09-29
OMIA 000963-9823Syndactyly (mule foot)Sus scrofapig 2005-09-06
OMIA 000209-9823Coat colour, dominant whiteSus scrofapig KIT 1996 2020-03-26
OMIA 001090-9823Fatty metamorphosis of visceraSus scrofapig 2011-10-18
OMIA 000064-9823ArthritisSus scrofapig 2005-09-06
OMIA 002217-9823Hyperphagia leading to hepatic steatosisSus scrofapig 2019-10-22
OMIA 000438-9823Haemophilia BSus scrofapig 2020-01-26
OMIA 000621-9823Malignant hyperthermiaSus scrofapig RYR1 1991 2020-07-23
OMIA 000985-9823Teat/nipple numberSus scrofapig 2012-12-13
OMIA 000080-9823AtherosclerosisSus scrofapig 2005-09-06
OMIA 001952-9823MicrotiaSus scrofapig HOXA1 2015 2015-04-16
OMIA 002232-9823Myopathy, congenital, SPTBN4-relatedSus scrofapig SPTBN4 2019 2020-01-28
OMIA 000202-9823Coat colour, oculocutaneous albinism type I (OCA1), TYR-relatedSus scrofapig 2017-08-08
OMIA 000991-9823Androgen insensitivity syndrome (AIS)Sus scrofapig 2005-09-06
OMIA 000629-9823MegacolonSus scrofapig 2005-09-06
OMIA 000038-9823Amyloidosis, AASus scrofapig 2013-08-05
OMIA 002241-9823Neurofibromatosis, type 1Sus scrofapig 2020-02-03
OMIA 000636-9823Membranoproliferative glomerulonephritis type IISus scrofapig CFH 2002 2012-09-21
OMIA 002238-9823Ichthyosis, ABCA12-relatedSus scrofapig 2020-02-03
OMIA 001003-9823ThrombopathiaSus scrofapig 2005-09-06
OMIA 000101-9823Respiratory distress syndromeSus scrofapig 2005-09-06
OMIA 002211-9823Cardiomyopathy, hypertrophic, SGCD-relatedSus scrofapig 2020-02-18
OMIA 002247-9823Microvillus inclusion diseaseSus scrofapig 2020-03-02
OMIA 000478-9823HoloprosencephalySus scrofapig 2005-09-06
OMIA 000770-9823Tremor, X-linkedSus scrofapig 2005-09-06
OMIA 001986-9823Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiationSus scrofapig DCLRE1C 2015 2016-04-01
OMIA 000348-9823Epitheliogenesis imperfectaSus scrofapig 2009-12-01
OMIA 000284-9823Diabetes mellitus, type IISus scrofapig 2017-08-08
OMIA 000319-9823Ears, folded (drop vs prick)Sus scrofapig MSRB3 2018 2020-04-19
OMIA 001258-9823ObesitySus scrofapig 2005-09-06
OMIA 001990-9823Cancer model, KRAS and TP53Sus scrofapig 2017-08-08
OMIA 001926-9823Achondrogenesis, type IISus scrofapig 2020-06-02
OMIA 001160-9823HyperlipidaemiaSus scrofapig 2005-09-06
OMIA 001046-9823Vertebral anomaliesSus scrofapig 2005-09-06
OMIA 001016-9823TremorSus scrofapig 2005-07-16
OMIA 000899-9823Severe combined immunodeficiency disease, X-linkedSus scrofapig 2018-04-19
OMIA 000459-9823Hernia, diaphragmaticSus scrofapig 2005-09-06
OMIA 001056-9823Von Willebrand disease, genericSus scrofapig 2005-09-06
OMIA 000901-9823XX testicular DSD (Disorder of Sexual Development)Sus scrofapig 2013-11-15
OMIA 000462-9823Hernia, inguinalSus scrofapig 2005-09-06
OMIA 001071-9823Wilson diseaseSus scrofapig 2005-09-06
OMIA 000807-9823Polycystic kidney diseaseSus scrofapig 2020-07-16
OMIA 002283-9823Arthrogryposis multiplex congenita, KIF21A-relatedSus scrofapig KIF21A 2020 2020-07-24
OMIA 000473-9823Hip dysplasiaSus scrofapig 2005-09-06
OMIA 001458-9823Hypotrichosis, juvenile with age-dependent emphysemaSus scrofapig 2013-09-20
OMIA 002287-9823Hypopigmentation and deafnessSus scrofapig KIT 2020 2020-10-21
OMIA 000468-9823Heterochromia irides/iridisSus scrofapig 2005-09-06
OMIA 001158-9823Polysaccharide storage myopathy/PSSM1/Exertional rhabdomyolysisSus scrofapig 2005-09-06
OMIA 002293-9823PhenylketonuriaSus scrofapig 2020-10-27
OMIA 000487-9823HydrocephalusSus scrofapig 2005-09-06
OMIA 000162-9823Cardiomyopathy, dilatedSus scrofapig 2005-09-06
OMIA 001718-9823Dwarfism, Schmid metaphyseal chondrodysplasiaSus scrofapig COL10A1 2000 2012-09-17
OMIA 002044-9823Ataxia telangiectasiaSus scrofapig 2016-10-17
OMIA 001743-9823Coat colour, patchSus scrofapig KIT 1998 2012-11-25
OMIA 001323-9823Dwarfism, LaronSus scrofapig 2016-09-29
OMIA 001745-9823Coat colour, white belt, KIT-relatedSus scrofapig KIT 2012 2019-11-26
OMIA 000499-9823HypercholesterolaemiaSus scrofapig LDLR 1998 2018-04-19
OMIA 000747-9823OsteoarthritisSus scrofapig 2005-09-06
OMIA 000179-9823Cerebellar hypoplasiaSus scrofapig 2005-09-06
OMIA 001081-9823Muscular dystrophy, Duchenne typeSus scrofapig 2016-10-17
OMIA 000278-9823Diabetes insipidusSus scrofapig 2016-10-17
OMIA 000507-9823HyperostosisSus scrofapig 2005-09-06
OMIA 000515-9823Cardiomyopathy, hypertrophicSus scrofapig 2018-03-24
OMIA 000969-9823TachycardiaSus scrofapig 2005-09-06
OMIA 000187-9823ChondrodysplasiaSus scrofapig 2005-09-06
OMIA 000197-9823Cleft palateSus scrofapig 2019-05-15
OMIA 002078-9823Tyrosinemia, type ISus scrofapig 2016-11-22
OMIA 000493-9823Hydrops foetalisSus scrofapig 2012-04-12
OMIA 001673-9823Spermatogenic arrestSus scrofapig TEX14 2011 2011-12-09
OMIA 001794-9823Cystic fibrosisSus scrofapig 2016-09-29
OMIA 000573-9823Kartagener syndromeSus scrofapig 2005-09-06
OMIA 001334-9823Sperm, short tailSus scrofapig SPEF2 2006 2011-12-09
OMIA 001266-9823Otitis media, susceptibility toSus scrofapig 2005-09-06
OMIA 000750-9823OsteochondrosisSus scrofapig 2013-05-17
OMIA 001175-9823Porphyria, congenital erythropoieticSus scrofapig 2005-09-06
OMIA 001176-9823Porphyria cutanea tardaSus scrofapig 2005-09-06
OMIA 000810-9823PolydactylySus scrofapig 2010-06-15
OMIA 001702-9823Alopecia areataSus scrofapig 2013-05-15
OMIA 000815-9823Porphyria, unclassifiedSus scrofapig 2005-09-06
OMIA 001104-9823Thrombocytopenic purpura, autoimmuneSus scrofapig 2005-09-06
OMIA 000817-9823Portosystemic shuntSus scrofapig 2005-09-06
OMIA 001813-9823HaemangiosarcomaSus scrofapig 2013-05-22
OMIA 000243-9823CryptorchidismSus scrofapig 2005-09-06
OMIA 000834-9823Protamine-2 deficiencySus scrofapig 2005-09-06
OMIA 000837-9823Vitamin D-deficiency rickets, type ISus scrofapig CYP27B1 2003 2012-09-21
OMIA 000201-9823Coat colour, agoutiSus scrofapig 2011-09-12
OMIA 000405-9823Gaucher disease, type ISus scrofapig 2017-10-17
OMIA 001401-9823Waardenburg syndrome, type 2ASus scrofapig MITF 2016 2017-10-18
OMIA 000249-9823CyclopiaSus scrofapig 2011-10-17
OMIA 001041-9823Ventricular septal defectSus scrofapig 2005-09-06
OMIA 001058-9823Von Willebrand disease IIISus scrofapig VWF 2018 2019-09-20
OMIA 000181-9823Neuronal Ceroid Lipofuscinosis, genericSus scrofapig 2009-12-01
OMIA 001200-9823Tremor, high-frequencySus scrofapig MYH7 2012 2012-11-23
OMIA 001278-9823Hypotrichosis, dominantSus scrofapig 2005-09-06